Inherited thrombocytopenia with thrombasthenia.
A family with congenital thrombocytopenia is described through four generations where the mode of inheritance appears to be an autosomal dominant. Spontaneous bruising of varying severity, menorrhagia, and profuse bleeding at operation necessitating transfusion were predominant in the history. Platelet function tests were performed on the various patients. Platelet aggregation by adenosine diphosphate (ADP) was found to be defective, though liberation of platelet factor III and platelet thromboplastic function were found to be normal when corrected for deficient numbers.
D000328:Adult; D001780:Blood Coagulation Tests; D001791:Blood Platelet Disorders / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006474:Hemorrhagic Disorders / Q000209:etiology; D006801:Humans; D008297:Male; D008595:Menorrhagia / Q000209:etiology; D013921:Thrombocytopenia / Q000150:complications / Q000151:congenital / Q000235:genetics*; D013925:Thromboplastin / Q000032:analysis
D013925:Thromboplastin